Not logged in Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome Pujol-Gimenez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E.; Albano, Giuseppe; Miller, Danny E.; Allworth, Aimee; Bennett, James T.; Byers, Peter H.; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B.; Gillentine, Madelyn A.; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A.; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H.; Rosenthal, Elisabeth A.; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P.; Timms, Andrew; Wener, Mark; Bamshad, Michael J.; Hisama, Fuki M.; Jarvik, Gail P.; Dipple, Katrina M.; Hediger, Matthias A.; Stergachis, Andrew B. Share Save
Damaging variants in FOXI3 cause microtia and craniofacial microsomia Quiat, Daniel; Timberlake, Andrew T.; Curran, Justin J.; Cunningham, Michael L.; McDonough, Barbara; Artunduaga, Maria A.; DePalma, Steven R.; Duenas-Roque, Milagros M.; Gorham, Joshua M.; Gustafson, Jonas A.; Hamdan, Usama; V. Hing, Anne; Hurtado-Villa, Paula; Nicolau, Yamileth; Osorno, Gabriel; Pachajoa, Harry; Porras-Hurtado, Gloria L.; Quintanilla-Dieck, Lourdes; Serrano, Luis; Tumblin, Melissa; Zarante, Ignacio; V. Luquetti, Daniela; Eavey, Roland D.; Heike, Carrie L.; Seidman, Jonathan G.; Seidman, Christine E. Share Save
Haploinsufficiency of SF3B2 causes craniofacial microsomia Timberlake, Andrew T.; Griffin, Casey; Heike, Carrie L.; Hing, Anne V.; Cunningham, Michael L.; Chitayat, David; Davis, Mark R.; Doust, Soghra J.; Drake, Amelia F.; Duenas-Roque, Milagros M.; Goldblatt, Jack; Gustafson, Jonas A.; Hurtado-Villa, Paula; Johns, Alexis; Karp, Natalya; Laing, Nigel G.; Magee, Leanne; Mullegama, Sureni V.; Pachajoa, Harry; Porras-Hurtado, Gloria L.; Schnur, Rhonda E.; Slee, Jennie; Singer, Steven L.; Staffenberg, David A.; Timms, Andrew E.; Wise, Cheryl A.; Zarante, Ignacio; Saint-Jeannet, Jean-Pierre; Luquetti, Daniela V. Share Save
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. Share Save
Targeted long-read sequencing identifies missing disease-causing variation Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E. Share Save
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females Li, Dong; Strong, Alanna; Shen, Kaitlyn M.; Cassiman, David; Van Dyck, Maria; Linhares, Natalia Duarte; Valadares, Eugenia Ribeiro; Wang, Tiancheng; Pena, Sergio D. J.; Jaeken, Jaak; Vergano, Samantha; Zackai, Elaine; Hing, Anne; Chow, Penny; Ganguly, Arupa; Scholz, Tasja; Bierhals, Tatjana; Philipp, Deindl; Hakonarson, Hakon; Bhoj, Elizabeth Share Save
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Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate Cox, Liza L.; Cox, Timothy C.; Uribe, Lina M. Moreno; Zhu, Ying; Richter, Chika T.; Nidey, Nichole; Standley, Jennifer M.; Deng, Mei; Blue, Elizabeth; Chong, Jessica X.; Yang, Yueqin; Carstens, Russ P.; Anand, Deepti; Lachke, Salil A.; Smith, Joshua D.; Dorschner, Michael O.; Bedell, Bruce; Kirk, Edwin; Hing, Anne, V; Venselaar, Hanka; Valencia-Ramirez, Luz C.; Bamshad, Michael J.; Glass, Ian A.; Cooper, Jonathan A.; Haan, Eric; Nickerson, Deborah A.; van Bokhoven, Hans; Zhou, Huiqing; Krahn, Katy N.; Buckley, Michael F.; Murray, Jeffrey C.; Lidral, Andrew C.; Roscioli, Tony Share Save
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome Kievit, Anneke; Tessadori, Federico; Douben, Hannie; Jordens, Ingrid; Maurice, Madelon; Hoogeboom, Jeannette; Hennekam, Raoul; Nampoothiri, Sheela; Kayserili, Hulya; Castori, Marco; Whiteford, Margo; Motter, Connie; Melver, Catherine; Cunningham, Michael; Hing, Anne; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Richieri-Costa, Antonio; Baas, Annette F.; Breugem, Corstiaan C.; Duran, Karen; Massink, Maarten; Derksen, Patrick W. B.; Van IJcken, Wilfred F. J.; van Unen, Leontine; Santos-Simarro, Fernando; Lapunzina, Pablo; Gil-da Silva Lopes, Vera L.; Lustosa-Mendes, Elaine; Krall, Max; Slavotinek, Anne; Martinez-Glez, Victor; Bakkers, Jeroen; Van Gassen, Koen L. I.; de Klein, Annelies; van den Boogaard, Marie-Jose H.; van Haaften, Gijs Share Save
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis Wenger, Tara L.; Dahl, John; Bhoj, Elizabeth J.; Rosen, Anna; McDonald-McGinn, Donna; Zackai, Elaine; Jacobs, Ian; Heike, Carrie L.; Hing, Anne; Santani, Avni; Inglis, Andrew F.; Sie, Kathleen C. Y.; Cunningham, Michael; Perkins, Jonathan Share Save
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome Wieczorek, Dagmar; Newman, William G.; Wieland, Thomas; Berulava, Tea; Kaffe, Maria; Falkenstein, Daniela; Beetz, Christian; Graf, Elisabeth; Schwarzmayr, Thomas; Douzgou, Sofia; Clayton-Smith, Jill; Daly, Sarah B.; Williams, Simon G.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Anderson, Beverley; O'Sullivan, James; Boute, Odile; Gundlach, Jasmin; Czeschik, Johanna Christina; van Essen, Anthonie J.; Hazan, Filiz; Park, Sarah; Hing, Anne; Kuechler, Alma; Lohmann, Dietmar R.; Ludwig, Kerstin U.; Mangold, Elisabeth; Steenpass, Laura; Zeschnigk, Michael; Lemke, Johannes R.; Lourenco, Charles Marques; Hehr, Ute; Prott, Eva-Christina; Waldenberger, Melanie; Boehmer, Anne C.; Horsthemke, Bernhard; O'Keefe, Raymond T.; Meitinger, Thomas; Bum, John; Luedecke, Hermann-Josef; Strom, Tim M. Share Save
Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis Smith, Joshua D.; Hing, Anne V.; Clarke, Christine M.; Johnson, Nathan M.; Perez, Francisco A.; Park, Sarah S.; Horst, Jeremy A.; Mecham, Brig; Maves, Lisa; Nickerson, Deborah A.; Cunningham, Michael L. Share Save
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome (vol 90, pg 907, 2012) Rieder, Mark J.; Green, Glenn E.; Park, Sarah S.; Stamper, Brendan D.; Gordon, Christopher T.; Johnson, Jason M.; Cunniff, Christopher M.; Smith, Joshua D.; Emery, Sarah B.; Lyonnet, Stanislas; Amiel, Jeanne; Holder, Muriel; Heggie, Andrew A.; Bamshad, Michael J.; Nickerson, Deborah A.; Cox, Timothy C.; Hing, Anne V.; Horst, Jeremy A.; Cunningham, Michael L. Share Save
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome (vol 90, pg 907, 2012) Rieder, Mark J.; Green, Glenn E.; Park, Sarah S.; Stamper, Brendan D.; Gordon, Christopher T.; Johnson, Jason M.; Cunniff, Christopher M.; Smith, Joshua D.; Emery, Sarah B.; Lyonnet, Stanislas; Amiel, Jeanne; Holder, Muriel; Heggie, Andrew A.; Bamshad, Michael J.; Nickerson, Deborah A.; Cox, Timothy C.; Hing, Anne V.; Horst, Jeremy A.; Cunningham, Michael L. Share Save
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome Rieder, Mark J.; Green, Glenn E.; Park, Sarah S.; Stamper, Brendan D.; Gordon, Christopher T.; Johnson, Jason M.; Cunniff, Christopher M.; Smith, Joshua D.; Emery, Sarah B.; Lyonnet, Stanislas; Amiel, Jeanne; Holder, Muriel; Heggie, Andrew A.; Bamshad, Michael J.; Nickerson, Deborah A.; Cox, Timothy C.; Hing, Anne V.; Horst, Jeremy A.; Cunningham, Michael L. Share Save
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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity Bachmann-Gagescu, Ruxandra; Mefford, Heather C.; Cowan, Charles; Glew, Gwen M.; Hing, Anne V.; Wallace, Stephanie; Bader, Patricia I.; Hamati, Aline; Reitnauer, Pamela J.; Smith, Rosemarie; Stockton, David W.; Muhle, Hiltrud; Helbig, Ingo; Eichler, Evan E.; Ballif, Blake C.; Rosenfeld, Jill; Tsuchiya, Karen D. Share Save
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FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; Maria Lopez, Ana; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C. Share Save
Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip Suzuki, Satoshi; Marazita, Mary L.; Cooper, Margaret E.; Miwa, Nobutomo; Hing, Anne; Jugessur, Astanand; Natsume, Nagato; Shimozato, Kazuo; Ohbayashi, Naofumi; Suzuki, Yasushi; Niimi, Teruyuki; Minami, Katsuhiro; Yamamoto, Masahiko; Altannamar, Tserendorj J.; Erkhembaatar, Tudevdorj; Furukawa, Hiroo; Daack-Hirsch, Sandra; L'Heureux, Jamie; Brandon, Carla A.; Weinberg, Seth M.; Neiswanger, Katherine; Deleyiannis, Frederic W. B.; de Salamanca, Javier E.; Vieira, Alexandre R.; Lidral, Andrew C.; Martin, James F.; Murray, Jeffrey C. Share Save
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